Familial hypercholesterolemia (FH) is a genetic disorder that makes it difficult for the body to remove cholesterol. This results in very high LDL cholesterol levels and can cause heart attacks at a young age. Chest pain and fatty deposits in parts of the hands, knees, ankles, and cornea are some of the signs that may be seen in those with the hereditary condition. The condition affects up to 1.5 million people in the United States, with most cases diagnosed because of extremely high cholesterol levels. Such severe numbers mean that typical high cholesterol treatments aren’t enough to lower numbers into a healthy range. A new type of cholesterol treatment, PCSK9 inhibitors, are used in patients who can’t get LDL levels low enough, those with FH, and those who cannot take statins.
Early phase clinical trials for PCSK9 revealed that the drug decreased LDL cholesterol at rates around 70 percent. Drug companies hope to expand the scope of patients to include anyone with high cholesterol. The drug is currently undergoing larger clinical trials which may reveal whether or not the drug is suitable for populations that aren’t as high risk as those with FH.
You can learn more about familial hypercholesterolemia with the FH Foundation, founded by Katherine Wilemon who suffered a major heart attack at age 38. The foundation hopes to raise awareness and save lives by increasing the rate of early diagnosis and encouraging proactive treatment.
Click here to read more about FH and PCSK9
